Gene Mutations
 
Records Return:  (9) Show
 
GeneGene Omim NumberDisease Omim NumberChromosome LocationGene MutationAllelic VariantOmim PhenotypeSample Count
PCCA23200060605413q321593_1595delATT PROPIONIC ACIDEMIA1
PCCA23200060605413q324-BP DEL, 1824IVS+30001PROPIONIC ACIDEMIA1
PCCA23200060605413q32418delC PROPIONIC ACIDEMIA1
PCCA23200060605413q32ARG243CYS PROPIONIC ACIDEMIA1
PCCA23200060605413q32DEL EX13-20 PROPIONIC ACIDEMIA1
PCCA23200060605413q32G216fs PROPIONIC ACIDEMIA3
PCCA23200060605413q32GLU233LYS PROPIONIC ACIDEMIA1
PCCA23200060605413q32GLY452VAL PROPIONIC ACIDEMIA1
PCCA23200060605413q32LYS298ARG PROPIONIC ACIDEMIA1